DisGeNET 
|
| Disease Name | Score | Nof References | Nof SNPs | Source |
|---|
| Acute periodontitis | 0.0002747267842131 | 1 | 0 | BEFREE |
| Agranulocytosis | 0.002407028523288 | 1 | 0 | GAD |
| Albuminuria | 0.002407028523288 | 1 | 0 | GAD |
| Angina Pectoris | 0.002407028523288 | 1 | 0 | GAD |
| Arteriosclerosis | 0.0019230874894917 | 7 | 1 | BEFREE |
| Asthma | 0.0153686658069926 | 4 | 1 | BEFREE; GAD; LHGDN |
| Atherosclerosis | 0.225662903160513 | 18 | 1 | BEFREE; CTD_human; GAD; LHGDN |
| Malignant neoplasm of urinary bladder | 0.002407028523288 | 1 | 0 | GAD |
| Malignant neoplasm of breast | 0.0005494535684262 | 2 | 1 | BEFREE |
| Bronchiolitis, Viral | 0.002407028523288 | 1 | 0 | GAD |
| Candidiasis | 0.002407028523288 | 1 | 0 | GAD |
| Cardiovascular Diseases | 0.0061876909676415 | 7 | 0 | BEFREE; GAD |
| Carotid Artery Diseases | 0.002407028523288 | 1 | 0 | GAD |
| Intracranial Aneurysm | 0.0002747267842131 | 1 | 0 | BEFREE |
| Intracranial Arteriosclerosis | 0.002407028523288 | 1 | 0 | GAD |
| Cerebral Infarction | 0.002407028523288 | 1 | 0 | GAD |
| Brain Ischemia | 0.002407028523288 | 1 | 0 | GAD |
| Cerebrovascular Disorders | 0.0032312088759273 | 4 | 1 | BEFREE; GAD |
| Malignant tumor of cervix | 0.0002747267842131 | 1 | 0 | BEFREE |
| Coronary Arteriosclerosis | 0.0257841584727885 | 23 | 1 | BEFREE; GAD |
| Coronary heart disease | 0.0243036246167651 | 22 | 1 | BEFREE; GAD; LHGDN |
| Coronary Artery Vasospasm | 0.0026817553075011 | 1 | 0 | BEFREE; GAD |
| Diabetes | 0.0005494535684262 | 2 | 0 | BEFREE |
| Diabetes Mellitus | 0.0008241803526393 | 3 | 0 | BEFREE |
| Diabetes Mellitus, Experimental | 0.28 | 3 | 0 | CTD_human; RGD |
| Diabetes Mellitus, Insulin-Dependent | 0.0056382373992153 | 3 | 0 | BEFREE; GAD |
| Diabetes Mellitus, Non-Insulin-Dependent | 0.215057137242784 | 16 | 1 | BEFREE; CTD_human; GAD |
| Diabetic Nephropathy | 0.00897176058976791 | 5 | 0 | BEFREE; GAD; LHGDN |
| DNA Damage | 0.002407028523288 | 1 | 0 | GAD |
| Eclampsia | 0.0002747267842131 | 1 | 0 | BEFREE |
| Eczema | 0.2 | 0 | 0 | HPO |
| Escherichia coli Infections | 0.2 | 0 | 0 | HPO |
| Fever | 0.2 | 0 | 0 | HPO |
| Chronic granulomatous disease | 0.408227448149076 | 21 | 1 | BEFREE; CTD_human; LHGDN; ORPHANET |
| Heart Diseases | 0.202681755307501 | 3 | 0 | BEFREE; CTD_human; GAD |
| Hepatomegaly | 0.2 | 0 | 0 | HPO |
| Hypercholesterolemia | 0.00568939455652795 | 3 | 1 | BEFREE; GAD; LHGDN |
| Hyperglycemia | 0.0002747267842131 | 1 | 0 | BEFREE |
| Hypertensive disease | 0.24727041709246 | 29 | 1 | BEFREE; CTD_human; GAD; LHGDN |
| Infarction | 0.00273291246481375 | 1 | 0 | LHGDN |
| Insulin Resistance | 0.004814057046576 | 2 | 0 | GAD |
| Kidney Diseases | 0.0005494535684262 | 2 | 1 | BEFREE |
| Kidney Failure, Acute | 0.0026817553075011 | 1 | 0 | BEFREE; GAD |
| Kidney Failure, Chronic | 0.208645876648242 | 6 | 0 | BEFREE; CTD_human; GAD; LHGDN |
| Leukemia | 0.00273291246481375 | 1 | 0 | LHGDN |
| Leukemia, Myelocytic, Acute | 0.0002747267842131 | 1 | 0 | BEFREE |
| Liver Cirrhosis | 0.2 | 1 | 0 | CTD_human |
| Liver Cirrhosis, Experimental | 0.2 | 1 | 0 | CTD_human |
| Chronic Obstructive Airway Disease | 0.202681755307501 | 1 | 0 | BEFREE; GAD; HPO |
| Lupus Erythematosus, Discoid | 0.2 | 0 | 0 | HPO |
| Lupus Erythematosus, Systemic | 0.002407028523288 | 1 | 0 | GAD |
| Lymphadenitis | 0.2 | 0 | 0 | HPO |
| Lymphoma, Non-Hodgkin | 0.0077705391382902 | 4 | 0 | BEFREE; GAD |
| Myocardial Infarction | 0.0859129641834284 | 7 | 1 | BEFREE; GAD; RGD |
| Obesity | 0.0026817553075011 | 2 | 0 | BEFREE; GAD |
| Degenerative polyarthritis | 0.00273291246481375 | 1 | 0 | LHGDN |
| Otitis Media | 0.2 | 0 | 0 | HPO |
| Paranasal Sinus Diseases | 0.2 | 0 | 0 | HPO |
| Peptic Ulcer | 0.002407028523288 | 1 | 0 | GAD |
| Periodontitis | 0.002407028523288 | 1 | 0 | GAD |
| Periodontitis, Juvenile | 0.0026817553075011 | 2 | 0 | BEFREE; GAD |
| Pyloric Stenosis | 0.2 | 0 | 0 | HPO |
| Respiratory Syncytial Virus Infections | 0.002407028523288 | 1 | 0 | GAD |
| Systemic Scleroderma | 0.0002747267842131 | 1 | 0 | BEFREE |
| Sinusitis | 0.2 | 0 | 0 | HPO |
| Splenomegaly | 0.2 | 0 | 0 | HPO |
| Cerebrovascular accident | 0.0132875212252304 | 3 | 0 | BEFREE; GAD; LHGDN |
| Tetralogy of Fallot | 0.00273291246481375 | 1 | 0 | LHGDN |
| Tracheoesophageal Fistula | 0.2 | 0 | 0 | HPO |
| Helicobacter Infections | 0.002407028523288 | 1 | 0 | GAD |
| Diffuse Large B-Cell Lymphoma | 0.0002747267842131 | 1 | 1 | BEFREE |
| T-Cell Lymphoma | 0.0002747267842131 | 1 | 0 | BEFREE |
| Essential Hypertension | 0.0008241803526393 | 3 | 0 | BEFREE |
| Left Ventricular Hypertrophy | 0.0002747267842131 | 1 | 0 | BEFREE |
| Rectal abscess | 0.2 | 0 | 0 | HPO |
| Hypocholesterolemia | 0.0002747267842131 | 1 | 0 | BEFREE |
| Myocardial Ischemia | 0.0002747267842131 | 1 | 0 | BEFREE |
| Disease of capillaries | 0.0002747267842131 | 1 | 0 | BEFREE |
| Coronary Stenosis | 0.00273291246481375 | 1 | 0 | LHGDN |
| Oxidative Stress | 0.004814057046576 | 2 | 0 | GAD |
| Perirectal abscess | 0.2 | 0 | 0 | HPO |
| Indian childhood cirrhosis | 0.0002747267842131 | 1 | 0 | BEFREE |
| Impaired glucose tolerance | 0.0002747267842131 | 1 | 0 | BEFREE |
| Cervix carcinoma | 0.0002747267842131 | 1 | 0 | BEFREE |
| Restenosis | 0.0002747267842131 | 1 | 0 | BEFREE |
| Venous retinal branch occlusion | 0.0002747267842131 | 1 | 0 | BEFREE |
| High altitude pulmonary edema | 0.0002747267842131 | 1 | 0 | BEFREE |
| Complications of Diabetes Mellitus | 0.002407028523288 | 1 | 0 | GAD |
| Intrahepatic Cholangiocarcinoma | 0.0002747267842131 | 1 | 0 | BEFREE |
| Photosensitivity of skin | 0.2 | 0 | 0 | HPO |
| Primary immune deficiency disorder | 0.0002747267842131 | 1 | 0 | BEFREE |
| Neutrophil abnormality | 0.2 | 0 | 0 | HPO |
| Neuropathy | 0.002407028523288 | 1 | 0 | GAD |
| Lymphadenopathy | 0.2 | 0 | 0 | HPO |
| Sleep Apnea, Obstructive | 0.0029564820917142 | 3 | 1 | BEFREE; GAD |
| Mediastinal lymphadenopathy | 0.2 | 0 | 0 | HPO |
| Granulomatosis | 0.2 | 0 | 0 | HPO |
| Carotid Atherosclerosis | 0.0002747267842131 | 1 | 0 | BEFREE |
| Breast Carcinoma | 0.0005494535684262 | 2 | 1 | BEFREE |
| Recurrent pneumonia | 0.2 | 0 | 0 | HPO |
| Hyperuricemia | 0.0005494535684262 | 2 | 0 | BEFREE |
| Multiple pulmonary infections | 0.2 | 0 | 0 | HPO |
| Brain Infarction | 0.0026817553075011 | 2 | 0 | BEFREE; GAD |
| Carcinoma in situ of uterine cervix | 0.002407028523288 | 1 | 0 | GAD |
| Arteriopathic disease | 0.0002747267842131 | 1 | 0 | BEFREE |
| Infectious disease of lung | 0.2 | 0 | 0 | HPO |
| Cerebral Aneurysm | 0.0005494535684262 | 2 | 0 | BEFREE |
| Ischemic stroke | 0.0002747267842131 | 1 | 1 | BEFREE |
| Acute Coronary Syndrome | 0.002407028523288 | 1 | 0 | GAD |
| Peripheral arterial occlusive disease | 0.0002747267842131 | 1 | 0 | BEFREE |
| Renal Insufficiency | 0.2 | 1 | 0 | CTD_human |
| Peripheral Arterial Diseases | 0.0002747267842131 | 1 | 1 | BEFREE |
| Recurrent bacterial skin infections | 0.2 | 0 | 0 | HPO |
| Hyperpigmented macules | 0.2 | 0 | 0 | HPO |
| Hepatic abscesses due to immunodeficiency | 0.2 | 0 | 0 | HPO |
| Cellulitis due to immunodeficiency | 0.2 | 0 | 0 | HPO |
| Absence of bactericidal oxidative 'respiratory burst' in phagocytes | 0.2 | 0 | 0 | HPO |
| Deficiency or absence of cytochrome b (-245) | 0.2 | 0 | 0 | HPO |
| Decreased activity of NADPH oxidase | 0.2 | 0 | 0 | HPO |
| Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative | 0.4 | 5 | 12 | CTD_human; UNIPROT |
| Recurrent pulmonary infections | 0.2 | 0 | 0 | HPO |
| Coronary artery disease, premature | 0.0002747267842131 | 1 | 0 | BEFREE |
| Coronary Artery Disease | 0.0279118745915308 | 23 | 2 | BEFREE; GAD; LHGDN |
| Chronic kidney disease stage 5 | 0.0002747267842131 | 1 | 0 | BEFREE |
| Recurrent Staphylococcus aureus infections | 0.2 | 0 | 0 | HPO |
| Ischemic Cerebrovascular Accident | 0.0002747267842131 | 1 | 1 | BEFREE |
| Autosomal Recessive Chronic Granulomatous Disease | 0.0008241803526393 | 3 | 0 | BEFREE |
| Malabsorption | 0.2 | 0 | 0 | HPO |
| Osteomyelitis due to immunodeficiency | 0.2 | 0 | 0 | HPO |
| Recurrent respiratory infections | 0.2 | 0 | 0 | HPO |
| Pre-renal acute kidney injury | 0.0002747267842131 | 1 | 0 | BEFREE |
| Autosomal recessive predisposition | 0.2 | 0 | 0 | HPO |
| Inflammatory abnormality of the eye | 0.0002747267842131 | 1 | 0 | BEFREE |
| Recurrent Klebsiella infections | 0.2 | 0 | 0 | HPO |
| Recurrent Aspergillus infections | 0.2 | 0 | 0 | HPO |
| Recurrent Burkholderia cepacia infections | 0.2 | 0 | 0 | HPO |
| Recurrent Serratia marcescens infections | 0.2 | 0 | 0 | HPO |
| Cervical cancer | 0.0002747267842131 | 1 | 0 | BEFREE |
| Negative nitroblue tetrazolium reduction test | 0.2 | 0 | 0 | HPO |
